PCDH19

Summary

The PCDH19 gene is found in the X chromosome. It is responsible for making proteins called protocadherin 19, a calcium-dependent cell-adhesion protein.
Epilepsy caused by changes in the PCDH19 gene mainly affects females. However, it can occur in males.
Changes in the PCDH19 gene can either be de novo (new in the person with epilepsy and not inherited from a parent) or be inherited from a parent.
This type of epilepsy is also called PCDH19 clustering epilepsy.
Seizures usually begin around nine months of age, are frequent, cluster, and commonly triggered by fever.
Children that develop PCDH19 epilepsy experience different types of seizures. The most common include focal impaired awareness seizures and tonic-clonic seizures.
Autism spectrum disorder (ASD), intellectual disability, loss of muscle tone (hypotonia), and other behavioural and psychiatric conditions can have varying severity in people with PCDH19 clustering epilepsy.
Diagnosis for PCDH19 epilepsy will require genetic testing.

Contacts and information